{"id":"W4323533826","doi":"10.1084/jem.20221755","title":"Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease","year":2023,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Asthma and respiratory diseases","field":"Medicine","cited_by":112,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; North York General Hospital; Genome British Columbia; Toronto General Hospital; University of Toronto; BC Children's Hospital; University of British Columbia","funders":"NHLBI Division of Intramural Research; Canadian Institutes of Health Research; NIHR BioResource; National Institutes of Health; University of British Columbia; Institut National Du Cancer; Killam Trusts; Croucher Foundation; Ministero della Salute; Children's Hospital Foundation; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; National Institute of Allergy and Infectious Diseases; Jeffrey Modell Foundation; Agence Nationale de la Recherche; Queen Mary University of London; BC Children's Hospital; National Institute for Health and Care Research; Genome British Columbia; Rockefeller University; BC Children’s Hospital Foundation; Canada Research Chairs; Penta Foundation UK; U.S. Department of Health and Human Services; ViiV Healthcare; St. Giles Foundation; Howard Hughes Medical Institute; University of Hong Kong","keywords":"STAT6; Immunology; Phenotype; STAT protein; Disease; Germline; Allergy; Immunoglobulin E; Allergic inflammation; Biology; Immune system; Medicine; Antibody; Genetics; Gene; Interleukin 4; Internal medicine; STAT3","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004943869,0.0002036796,0.0004764714,0.0002184729,0.0001473086,0.000004540128,0.0001777644,0.00004760475,0.0005948989],"category_scores_gemma":[0.0001087347,0.0001111854,0.0001641027,0.0003118932,0.0003137772,0.0001022826,0.00006370064,0.0002408538,0.00002658426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006472617,"about_ca_system_score_gemma":0.0001131751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001562586,"about_ca_topic_score_gemma":8.057655e-7,"domain_scores_codex":[0.9980509,0.00014623,0.0007031171,0.0001294272,0.0007263162,0.0002439803],"domain_scores_gemma":[0.9985369,0.00009437009,0.0004374356,0.0003238371,0.0001517902,0.0004556144],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.006460693,0.001185343,0.003115862,0.0002032932,0.0006117934,0.002529862,0.003038969,0.0003248177,0.9278415,0.0001124027,0.05322765,0.001347776],"study_design_scores_gemma":[0.07733162,0.05816972,0.5931694,0.01062958,0.00861579,0.007840409,0.05532566,0.001304744,0.1524184,0.001499173,0.03177702,0.001918502],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903232,0.006779456,0.00003502639,0.001448917,0.0005903016,0.0002575061,0.000009420349,0.00003680135,0.0005193813],"genre_scores_gemma":[0.996823,0.0002133953,0.00001122653,0.001078064,0.001036261,0.000004483789,0.00001689879,0.00003417644,0.0007825085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7754231,"threshold_uncertainty_score":0.6513726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03457808636143497,"score_gpt":0.3321938680317522,"score_spread":0.2976157816703172,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}